A novel partial de novo duplication of JARID2 gene causing a neurodevelopmental phenotype

BACKGROUND: Deletions covering the entire or partial JARID2 gene as well as pathogenic single nucleotide variants leading to haploinsufficiency of JARID2 have recently been shown to cause a clinically distinct neurodevelopmental syndrome. Here, we present a previously undescribed partial de novo dup...

Descripción completa

Detalles Bibliográficos
Autores principales: Viitasalo, Liisa, Kettunen, Kaisa, Kankainen, Matti, Niemelä, Elina H., Kiiski, Kirsi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9651605/
https://www.ncbi.nlm.nih.gov/pubmed/35979655
http://dx.doi.org/10.1002/mgg3.2037

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9651605/
https://www.ncbi.nlm.nih.gov/pubmed/35979655
http://dx.doi.org/10.1002/mgg3.2037

Ejemplares similares